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Pelizaeus-Merzbacher-like due to HSPD1 mutation
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
1 OMIM reference -
1 associated gene
26 signs/symptoms
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria

HSPD1
(UniProt - OMIM)
 MPST
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HSPD1
(0.63)
MPST


Citations in the biomedical literature:


Pelizaeus-Merzbacher-like due to HSPD1 mutation
HSPD1
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
MPST



Pelizaeus-Merzbacher-like due to HSPD1 mutation
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria

Synonym(s):
- Mitochondrial HSP60 chaperonopathy
Synonym(s):
- Ampola syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria

Very frequent
- Autosomal dominant inheritance
- High forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism

Frequent
- Anteverted nares / nostrils
- Beaked nose
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dry / squaly skin / exfoliation
- Ear cartilage deficiency
- EEG anomalies
- Frontal bossing / prominent forehead
- Genu valgum
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Hypotonia
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Short limbs / micromelia / brachymelia
- Spindle shaped fingers
- Strabismus / squint
- Wide space between 1st-2nd toes

Occasional
- Atrial septal defect / interauricular communication
- Generalized obesity
- Umbilical hernia
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter


Pelizaeus-Merzbacher-like due to HSPD1 mutation

(no data available)